Primary Identifier | MGI:1338881 | Organism | mouse, laboratory |
Chromosome | 9 | NCBI Gene Number | 19143 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables serine-type endopeptidase activity. Involved in proteolysis. Acts upstream of or within epithelial cell morphogenesis involved in placental branching and neural tube closure. Located in external side of plasma membrane and extracellular space. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and sensory organ. Used to study Sjogren's syndrome. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 11. Orthologous to human ST14 (ST14 transmembrane serine protease matriptase). PHENOTYPE: Homozygous inactivation of this locus results in pleiotropic defects affecting the development of the epidermis, hair follicles, and immune system. Mutant mice become dehydrated due to impaired epidermal barrier function and die within days of birth. [provided by MGI curators] |